University of Helsinki Institute of Biotechnology – The Battersby Lab receives support from HNF to develop an effective treatment approach for C12orf65 deficiency (also known as MTRFR).
Brendan Battersby, PhD is collaborating with HNF’s TRIAD Council member, Robert Burgess, PhD at Jackson Laboratory to develop a mouse model to test an AAV9 gene therapy. The AAV9 therapy has been designed by Stephan Gray, PhD in collaboration with UNC at Chapel Hill.
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Some recent papers on Charcot-Marie-Tooth (CMT) disease go to show that we are steadily and impressively peeling back the complexity of the biology even though it is a relatively common rare disease with several thousand publications on it.